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Journal of Pediatric Endocrinology & Metabolism : JPEM|February 13, 2020
Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral routeSaygın Abalı, Mayuko Tamura, Serap Turan, et al.
BMC Neurology|April 25, 2018
Acquired modification of sphingosine-1-phosphate lyase activity is not related to adrenal insufficiencyGulin Sunter, Ece Oge Enver, Azad Akbarzade, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|September 22, 2020
Persistent Müllerian Duct Syndrome: A Rare But Important Etiology of Inguinal Hernia and CryptorchidismFuat Bugrul, Zehra Yavas Abali, Tarik Kirkgoz, et al.
The Journal of Clinical Endocrinology and Metabolism|May 17, 2021
Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to FOXA2 Gene DefectsSare Betul Kaygusuz, Esra Arslan Ates, Maria Lillina Vignola, et al.
Annals of Human Genetics|September 18, 2014
The frequency and the effects of 21-hydroxylase gene defects in congenital adrenal hyperplasia patientsDeniz Kirac, Ahmet Ilter Guney, Teoman Akcay, et al.
European Journal of Endocrinology|March 2, 2022
Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volumeEsra Arslan Ates, Mehmet Eltan, Bahadir Sahin, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 20, 2013
Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruptionSerap Turan, Eduardo Fernandez-Rebollo, Cumhur Aydin, et al.
Calcified Tissue International|November 11, 2021
Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical FeaturesMehmet Eltan, Zehra Yavas Abali, Ayberk Turkyilmaz, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 28, 2011
Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?Eduardo Fernández-Rebollo, Guiomar Pérez de Nanclares, Beatriz Lecumberri, et al.
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